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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: X-101360581-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101360581&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101360581,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001287344.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Arg255Arg",
"transcript": "NM_000061.3",
"protein_id": "NP_000052.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 659,
"cds_start": 763,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "ENST00000308731.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000061.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Arg255Arg",
"transcript": "ENST00000308731.8",
"protein_id": "ENSP00000308176.8",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 659,
"cds_start": 763,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "NM_000061.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308731.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Arg289Arg",
"transcript": "ENST00000621635.4",
"protein_id": "ENSP00000483570.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 693,
"cds_start": 865,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621635.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Arg289Arg",
"transcript": "NM_001287344.2",
"protein_id": "NP_001274273.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 693,
"cds_start": 865,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287344.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Arg255Arg",
"transcript": "ENST00000944957.1",
"protein_id": "ENSP00000615016.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 686,
"cds_start": 763,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 2643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944957.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Arg255Arg",
"transcript": "ENST00000695614.1",
"protein_id": "ENSP00000512053.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 659,
"cds_start": 763,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695614.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Arg255Arg",
"transcript": "ENST00000695615.1",
"protein_id": "ENSP00000512054.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 659,
"cds_start": 763,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695615.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Arg255Arg",
"transcript": "ENST00000896540.1",
"protein_id": "ENSP00000566599.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 659,
"cds_start": 763,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896540.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Arg255Arg",
"transcript": "ENST00000944955.1",
"protein_id": "ENSP00000615014.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 659,
"cds_start": 763,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944955.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.760C>A",
"hgvs_p": "p.Arg254Arg",
"transcript": "ENST00000695617.1",
"protein_id": "ENSP00000512056.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 658,
"cds_start": 760,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695617.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Arg255Arg",
"transcript": "ENST00000695623.1",
"protein_id": "ENSP00000512063.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 657,
"cds_start": 763,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695623.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Arg255Arg",
"transcript": "ENST00000695625.1",
"protein_id": "ENSP00000512064.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 648,
"cds_start": 763,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695625.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Arg255Arg",
"transcript": "ENST00000695622.1",
"protein_id": "ENSP00000512062.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 638,
"cds_start": 763,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695622.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.664C>A",
"hgvs_p": "p.Arg222Arg",
"transcript": "ENST00000914420.1",
"protein_id": "ENSP00000584479.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 626,
"cds_start": 664,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914420.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Arg212Arg",
"transcript": "ENST00000944956.1",
"protein_id": "ENSP00000615015.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 616,
"cds_start": 634,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944956.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Arg255Arg",
"transcript": "ENST00000944958.1",
"protein_id": "ENSP00000615017.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 614,
"cds_start": 763,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944958.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Arg255Arg",
"transcript": "NM_001287345.2",
"protein_id": "NP_001274274.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 483,
"cds_start": 763,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287345.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.763C>A",
"hgvs_p": "p.Arg255Arg",
"transcript": "ENST00000703407.1",
"protein_id": "ENSP00000512057.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 483,
"cds_start": 763,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.543C>A",
"hgvs_p": null,
"transcript": "ENST00000464006.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 801,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464006.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.923C>A",
"hgvs_p": null,
"transcript": "ENST00000478995.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478995.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.921C>A",
"hgvs_p": null,
"transcript": "ENST00000488970.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488970.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.*608C>A",
"hgvs_p": null,
"transcript": "ENST00000695616.1",
"protein_id": "ENSP00000512055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695616.1"
},
{
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{
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"BP7"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}